{"id":"https://openalex.org/W2023218652","doi":"https://doi.org/10.1002/ana.410390518","title":"A novel point mutation in the mcleod syndrome gene in neuroacanthocytosis","display_name":"A novel point mutation in the mcleod syndrome gene in neuroacanthocytosis","publication_year":1996,"publication_date":"1996-05-01","ids":{"openalex":"https://openalex.org/W2023218652","doi":"https://doi.org/10.1002/ana.410390518","mag":"2023218652","pmid":"https://pubmed.ncbi.nlm.nih.gov/8619554"},"language":"en","primary_location":{"id":"doi:10.1002/ana.410390518","doi":"https://doi.org/10.1002/ana.410390518","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.410390518","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006432577","display_name":"Mengfatt Ho","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. F. Ho","raw_affiliation_strings":["Institute of Molecular Medicine, Imperial Cancer Research Fund, John Radcliffe Hospital, Oxford"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Molecular Medicine, Imperial Cancer Research Fund, John Radcliffe Hospital, Oxford","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070454335","display_name":"R. M. Chalmers","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R. M. Chalmers","raw_affiliation_strings":["University Department of Clinical Neurology, Institute of Neurology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Department of Clinical Neurology, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I4405260083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090151246","display_name":"Mary B. Davis","orcid":"https://orcid.org/0000-0002-2123-4688","observed_orcids":["https://orcid.org/0000-0002-2123-4688"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. B. Davis","raw_affiliation_strings":["University Department of Clinical Neurology, Institute of Neurology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Department of Clinical Neurology, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I4405260083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071867646","display_name":"A. E. Harding","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A. E. Harding","raw_affiliation_strings":["University Department of Clinical Neurology, Institute of Neurology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Department of Clinical Neurology, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I4405260083"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038938677","display_name":"Anthony P. Monaco","orcid":"https://orcid.org/0000-0001-7480-3197","observed_orcids":["https://orcid.org/0000-0001-7480-3197"]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A. P. MD Monaco","raw_affiliation_strings":["Institute of Molecular Medicine, Imperial Cancer Research Fund, John Radcliffe Hospital, Oxford"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Molecular Medicine, Imperial Cancer Research Fund, John Radcliffe Hospital, Oxford","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4700,"currency":"USD","value_usd":4700},"apc_paid":null,"fwci":1.1677,"has_fulltext":false,"cited_by_count":62,"citation_normalized_percentile":{"value":0.76414385,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"39","issue":"5","first_page":"672","last_page":"675"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9243000149726868,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9243000149726868,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.04470000043511391,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.010300000198185444,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mcleod-syndrome","display_name":"McLeod syndrome","score":0.9950000047683716},{"id":"https://openalex.org/keywords/neuroacanthocytosis","display_name":"neuroacanthocytosis","score":0.9900000095367432},{"id":"https://openalex.org/keywords/point-mutations","display_name":"point mutations","score":0.7160000205039978},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8999999761581421},{"id":"https://openalex.org/keywords/premature-termination-codon","display_name":"premature stop codon","score":0.7089999914169312},{"id":"https://openalex.org/keywords/x-linked-recessive-disorder","display_name":"X-linked recessive disorder","score":0.7870000004768372},{"id":"https://openalex.org/keywords/skewed-x-inactivation","display_name":"X-inactivation skewing","score":0.8790000081062317},{"id":"https://openalex.org/keywords/female-carriers","display_name":"female carriers","score":0.48899999260902405},{"id":"https://openalex.org/keywords/exon-2","display_name":"exon 2","score":0.7540000081062317},{"id":"https://openalex.org/keywords/neuromuscular-dysfunction","display_name":"neuromuscular dysfunction","score":0.6620000004768372},{"id":"https://openalex.org/keywords/hematopoietic-dysfunction","display_name":"hematopoietic dysfunction","score":0.9449999928474426}],"concepts":[{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.8816695809364319},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.7532995343208313},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6718482971191406},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.575745701789856},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5305101275444031},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5012903213500977},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4069938659667969},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.301224946975708}],"mesh":[{"descriptor_ui":"D000050","descriptor_name":"Acanthocytes","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D004303","descriptor_name":"Dosage Compensation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006413","descriptor_name":"Hematopoietic System","qualifier_ui":"Q000166","qualifier_name":"cytology","is_major_topic":false},{"descriptor_ui":"D006413","descriptor_name":"Hematopoietic System","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007626","descriptor_name":"Kell Blood-Group System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009468","descriptor_name":"Neuromuscular Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ana.410390518","doi":"https://doi.org/10.1002/ana.410390518","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.410390518","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},{"id":"pmid:8619554","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8619554","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W58398381","https://openalex.org/W1532105128","https://openalex.org/W1968180131","https://openalex.org/W1982370772","https://openalex.org/W1984190502","https://openalex.org/W1985456642","https://openalex.org/W1994333666","https://openalex.org/W2017552638","https://openalex.org/W2043457796","https://openalex.org/W2067428175","https://openalex.org/W2073463191","https://openalex.org/W2073566928","https://openalex.org/W2074139829","https://openalex.org/W2113333419","https://openalex.org/W2131626832","https://openalex.org/W2167782335","https://openalex.org/W2336413445","https://openalex.org/W2339219920","https://openalex.org/W4234243579"],"related_works":["https://openalex.org/W2064025816","https://openalex.org/W2016786523","https://openalex.org/W2005974899","https://openalex.org/W7215131034","https://openalex.org/W2032864200","https://openalex.org/W2039503226","https://openalex.org/W4242352255","https://openalex.org/W3198277924","https://openalex.org/W3032650377","https://openalex.org/W2346373557"],"abstract_inverted_index":{"McLeod":[0,16,37],"syndrome":[1,17],"is":[2],"an":[3],"X-linked":[4],"recessive":[5],"disorder,":[6],"characterized":[7],"by":[8],"neuromuscular":[9],"and":[10,57],"hematopoietic":[11],"dysfunction.":[12],"Two":[13],"cases":[14],"of":[15,28,35,42,62,68],"were":[18],"reported":[19],"in":[20,39,50,59,71],"a":[21,46,55],"family":[22,44],"with":[23],"neuroacanthocytosis":[24],"and,":[25],"remarkably,":[26],"1":[27],"them":[29],"was":[30,65],"female.":[31,75],"Direct":[32],"sequence":[33],"analysis":[34],"the":[36,43,72],"gene":[38],"12":[40],"members":[41],"revealed":[45],"novel":[47],"point":[48],"mutation":[49],"exon":[51],"2":[52],"that":[53],"creates":[54],"frameshift":[56],"results":[58],"premature":[60],"termination":[61],"translation.":[63],"There":[64],"marked":[66],"skewing":[67],"X":[69],"inactivation":[70],"severely":[73],"affected":[74]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
